A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome

201027 citationsJournal Articlebronze Open Access

Authors

Scott A. Rivkees · Yale University

Karl Hager · JS Genetics (United States)

Seiyu Hosono · JS Genetics (United States)

Anastasia Wise · Yale University

Peining Li · Yale University

Henry M. Rinder · Yale University

Jeffrey R. Gruen ·

Abstract

These results demonstrate the validity of a high-throughput, pyrosequencing based test for the accurate detection of TS, providing a potential alternative to karyotype testing.

Topics & Keywords

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Gender Studies in Language Vector-Borne Animal Diseases

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: The Journal of Clinical Endocrinology & Metabolism

Volume 96, Issue 3, pp. 699-705

DOI: 10.1210/jc.2010-1554

Field-Weighted Citation Impact: 1.94